Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings.
Ye ShiFang-Xiu ZhengJing WangQin ZhouYing-Ping ChenBin ZhangPublished in: Molecular cytogenetics (2024)
NIPT has a good screening effect on 17q12 syndrome through prenatal diagnosis, therefore it could be considered for screening fetal CNV during the second trimester. With the clinical application of NIPT, invasive prenatal diagnoses could be effectively reduced while also improving the detection rate of fetal CNV.